LOCUS       NM_206918               3834 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens delta 4-desaturase, sphingolipid 2 (DEGS2), mRNA.
ACCESSION   NM_206918 XM_058681
VERSION     NM_206918.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3834)
  AUTHORS   Ota,A., Morita,H., Naganuma,T., Miyamoto,M., Jojima,K., Nojiri,K.,
            Matsuda,J. and Kihara,A.
  TITLE     Bifunctional DEGS2 has higher hydroxylase activity toward
            substrates with very-long-chain fatty acids in the production of
            phytosphingosine ceramides
  JOURNAL   J Biol Chem 299 (4), 104603 (2023)
   PUBMED   36907437
  REMARK    GeneRIF: Bifunctional DEGS2 has higher hydroxylase activity toward
            substrates with very-long-chain fatty acids in the production of
            phytosphingosine ceramides.
REFERENCE   2  (bases 1 to 3834)
  AUTHORS   Ohi,K., Ursini,G., Li,M., Shin,J.H., Ye,T., Chen,Q., Tao,R.,
            Kleinman,J.E., Hyde,T.M., Hashimoto,R. and Weinberger,D.R.
  TITLE     DEGS2 polymorphism associated with cognition in schizophrenia is
            associated with gene expression in brain
  JOURNAL   Transl Psychiatry 5 (4), e550 (2015)
   PUBMED   25871975
  REMARK    GeneRIF: Findings demonstrate that a SNP showing genome-wide
            association study significant association with cognition in
            schizophrenia is also associated with regulation of DEGS2
            expression, implicating a molecular mechanism for the clinical
            association.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3834)
  AUTHORS   Devlin,C.M., Lahm,T., Hubbard,W.C., Van Demark,M., Wang,K.C.,
            Wu,X., Bielawska,A., Obeid,L.M., Ivan,M. and Petrache,I.
  TITLE     Dihydroceramide-based response to hypoxia
  JOURNAL   J Biol Chem 286 (44), 38069-38078 (2011)
   PUBMED   21914808
  REMARK    GeneRIF: overexpression of DEGS1 or DEGS2 attenuates the DHC
            accumulation and increased cell proliferation during hypoxia
            Erratum:[J Biol Chem. 2012 May 18;287(21):17425]
REFERENCE   4  (bases 1 to 3834)
  AUTHORS   Mizutani,Y., Kihara,A. and Igarashi,Y.
  TITLE     Identification of the human sphingolipid C4-hydroxylase, hDES2, and
            its up-regulation during keratinocyte differentiation
  JOURNAL   FEBS Lett 563 (1-3), 93-97 (2004)
   PUBMED   15063729
  REMARK    GeneRIF: DES2 was identified and its up-regulation followed during
            keratinocyte differentiation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM789564.1, BC063598.1,
            AY541700.1, AI380009.1 and AL133523.5.
            
            On Nov 23, 2018 this sequence version replaced NM_206918.2.
            
            Summary: This gene encodes a bifunctional enzyme that is involved
            in the biosynthesis of phytosphingolipids in human skin and in
            other phytosphingolipid-containing tissues. This enzyme can act as
            a sphingolipid delta(4)-desaturase, and also as a sphingolipid
            C4-hydroxylase. [provided by RefSeq, Oct 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.225906.1,
                                           SRR1660807.226848.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305631.7/ ENSP00000307126.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                BM789564.1         31-53
            24-226              BC063598.1         1-203
            227-1050            AY541700.1         177-1000
            1051-1375           AI380009.1         7-331               c
            1376-3834           AL133523.5         81482-83940         c
FEATURES             Location/Qualifiers
     source          1..3834
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..3834
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /note="delta 4-desaturase, sphingolipid 2"
                     /db_xref="GeneID:123099"
                     /db_xref="HGNC:HGNC:20113"
                     /db_xref="MIM:610862"
     exon            1..140
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1030
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /EC_number="1.14.18.5"
                     /EC_number="1.14.19.17"
                     /note="sphingolipid delta(4)-desaturase/C4-hydroxylase
                     DES2; sphingolipid delta 4 desaturase/C-4 hydroxylase;
                     sphingolipid C4-hydroxylase/delta 4-desaturase;
                     sphingolipid 4-desaturase; degenerative spermatocyte
                     homolog 2, lipid desaturase; sphingolipid
                     delta(4)-desaturase 2; dihydroceramide desaturase 2;
                     sphingolipid C4-monooxygenase"
                     /codon_start=1
                     /product="sphingolipid
                     delta(4)-desaturase/C4-monooxygenase DES2"
                     /protein_id="NP_996801.2"
                     /db_xref="CCDS:CCDS9956.1"
                     /db_xref="GeneID:123099"
                     /db_xref="HGNC:HGNC:20113"
                     /db_xref="MIM:610862"
                     /translation="MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLK
                     WAVLVLVLVQMLACWLVRGLAWRWLLFWAYAFGGCVNHSLTLAIHDISHNAAFGTGRA
                     ARNRWLAVFANLPVGVPYAASFKKYHVDHHRYLGGDGLDVDVPTRLEGWFFCTPARKL
                     LWLVLQPFFYSLRPLCVHPKAVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFL
                     GLGLHPISGHFVAEHYMFLKGHETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLV
                     RKIAPEYYDHLPQHHSWVKVLWDFVFEDSLGPYARVKRVYRLAKDGL"
     exon            141..883
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /inference="alignment:Splign:2.1.0"
     exon            884..3834
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1349..1354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /note="hexamer: ATTAAA"
     polyA_site      1372
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /note="major polyA site"
     regulatory      3789..3794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
                     /note="hexamer: AAGAAA"
     polyA_site      3813
                     /gene="DEGS2"
                     /gene_synonym="C14orf66; DES2; FADS8"
ORIGIN      
        1 gcgacaggtg cagcagagcc gagccggccg cgctccgaac ggcgcctccc gccccaccat
       61 gggcaacagc gcgagccgca gcgacttcga gtgggtctac accgaccagc cgcacacgca
      121 gcggcgcaag gagatactgg ccaagtaccc ggccatcaag gccctgatgc ggccagaccc
      181 gcgcctcaag tgggcggtgc tggtgctggt gctggtgcag atgctggcct gctggctggt
      241 gcgcgggctg gcctggcgct ggctgctgtt ctgggcctac gcctttggtg gctgcgtgaa
      301 ccactcgctg acgctggcca tccacgacat ctcgcacaac gcggccttcg gcacgggccg
      361 tgcggcacgc aaccgctggc tggccgtgtt cgccaacctg cccgtgggtg tgccctacgc
      421 cgcctccttc aagaagtacc acgtggacca ccaccgctac ctgggcggcg acgggctgga
      481 cgtggacgtg cccacgcgtc tggagggctg gttcttctgc acacccgccc gcaagctgct
      541 ctggctggtg ctgcagccct tcttctactc actacggccg ctctgcgtcc accccaaggc
      601 cgtgacccgc atggaggtgc tcaacacgct ggtgcagctg gcggccgacc tggccatctt
      661 tgccctttgg gggctcaagc ccgtggtcta cctgctggcc agctccttcc tgggcctggg
      721 cctgcacccc atctcgggcc acttcgtggc cgagcactac atgttcctca agggccacga
      781 gacctactcc tactatgggc ctctcaactg gatcaccttc aatgtgggct accacgtgga
      841 gcaccacgac ttccccagca tcccgggcta caacctgccg ctggtgcgga agatcgcgcc
      901 cgagtactac gaccacctgc cgcagcacca ctcctgggtg aaggtgctct gggattttgt
      961 gtttgaggac tccctggggc cctatgccag ggtgaagcgg gtgtacaggc tggcaaaaga
     1021 tggtctgtga gcccgggctg cctcctggtg gtggccattg tcccccatcg gcccctcagc
     1081 cttgcacccc agcactgaga agctacattt ccttcctgtg ctctggactg ctgcccttgt
     1141 ccccgaggag tgtcccgcgc agccacacct ggcaacagca gtgtgggctg cagggctccg
     1201 tctgcacgtg gacttgccct ggaccttgag tgtggccctc cctttctggg cctccccagg
     1261 tgaggcctgg ccctgcccca ccatgacctg ggtgctctga gcccacggtt cccacggagc
     1321 tgacttctcc ggggtgcctg tgccctacat taaacccggc gtttgtttca cagcccatgg
     1381 attgtgcttc tgagggggtg gtctgggctt gagcctggcc ccagggaatg gggcgctggg
     1441 ccgccccgat gagtggagct tgaggcctga gtgccgcttc gtccaggcca ggcccaggtc
     1501 ctgccatgca ctcctggctc tttgtgggac ggtggctgct gctggcagtg ctccctcagg
     1561 gcctgccact gtggtgtgca cacacactga ggtgtggaca gcagaaagct cactttggtc
     1621 atctgtgtgg ctccaaatcc ctcctagcag cccggggatc ccacggctcc cttgcctggc
     1681 tgagccacgc agaggctggc tcccccatcc ccctgagccc acaccacctg ccttgccccc
     1741 accccttggg cctgctcacc tcctgctctc tgtatgccct cccgcggcag ggagcgtccc
     1801 tgagcccaga gagggtctat cccccacacc agctcggagg aggggctgga ggagctctgc
     1861 ccagatctgg cacccaagcc cgggggctgg ccgggcaggt gactgtcctg gtgagccaca
     1921 gctcagatgg gatgcgggtc gggcagcgtc ctgggagtgt gcgtgacgtg agacgtgtcg
     1981 gtcctttcta cagaagggct gagggtgcag ctgcgaccta ggaggttgtc ttctcctgga
     2041 gggcagggct gggttgggtc ctgatgtccc agaggtgggc aggcagcagg aggggtgcct
     2101 gagcgaggag gccctccctg ccagagaggg atggagcggg cccactgcaa tccagcagtg
     2161 gatgcagctc ccaccactgc cttggggaag gcggcctcag cctccaggac ttaggaatgg
     2221 agactgaggc tacagtcagg gcttgaaggc ctctccatga gtggggtgcc aggggctgtc
     2281 cctgctgacc tgggagatgc aggtctcccc ctatacctgg gagtggcccc gcacagcgcc
     2341 ggcctcccat gtccgagtgg gcagcctgct gagtggcgca gggaagaggc ctgagcccag
     2401 gacttgttct gcaaaggaag tgctgctggc cccggcacca ggactttgag ccgggcggcc
     2461 cctccctgtg cacacaggcc cgcccacagg ctgaggggaa cccagagcac ccgctcctcc
     2521 tgctgtgcct gagggggtgc ctcgttcagc acacttttct gcagacagcg caaaggggca
     2581 tgtccaggcc tcacccacaa actgaaggcc aggcccaggg tcagagggtg gctccgaaga
     2641 cagacagtcc tttgagcgct cctggggaga ctcctggcct tggggggagc cctcctggcc
     2701 tggggggcgg cagggaagcg ggagagagca gctctgagct gtggtctgca ggccctgggt
     2761 taaaagtgcc accagaccta ggtgaagcct aggcgaagcc actcagagag tggagcctcc
     2821 taaggggcag agcagtcata ttcctgttgc tagggctgcc gggaagccca acaacgtgca
     2881 gtgtgctagg agccggccct tgagatcagc cactgggtcc cagcaggcag tgccggctcc
     2941 ctcccctgcc atggcccttg ggggctgctg ggcacactgc tctgtggctg caggaggtca
     3001 tgtgggagaa ctgggggcat gagtggtcac aggatctcaa ggcctgcctg ttggtggccc
     3061 tggttccttg aagctgaggg tcagaacctc tgtctctggc tgctgcctca gggcaggggc
     3121 ctgggacagc ccattgcagg ccaggtggtc ctcccaggag actttgtggg gccgaggaga
     3181 aggcaaagct gccttgcatt tgcctggtgc ctgctaagcc ccaagtccat ccctcccctg
     3241 aacaggacgc tcgcagggcc ctgcccgtca gaatgcacgt ggagtcctct gaggttcggg
     3301 ggtgtgggtt gcacttgagg gaccatcttc ctggagatcc cgtagggagt tccctacagg
     3361 caggacctga ggcccagccc caggacacca ccccaccttc ccggggcttg ggaatgttct
     3421 gagcccagct tcctgtcgaa gaccgccatc ttgctcctac gactcctggt caccgtggtc
     3481 ccgggccctt ctctgaaaag gggcatcccc agcccggagc gtgatggacc aatgcgaggg
     3541 cctgagcccg agggtgcgga cagtaaaccg tttattactg tgtggacaca gacaccgtgg
     3601 tgcatgacag acagtttcaa caccatgagc gctggggacg gagctgtgcc tggacagctc
     3661 tgcggtgtgt ggtggcgcca cgctgggccg gctgtcaccg ccagctgagg cgctaacagc
     3721 gtcacctggg agaaaacctg gaaaccgtct aatgaagcag gtgacttagg ggcgtctcta
     3781 gaaacccaaa gaaatgtacc ttaaataagc aaatataaaa cacaaaaaag acga
//
